鲁西黄牛MSTN基因上游序列多态性对转录表达的影响

肌肉生长抑制素（myostatin,MSTN）基因是转化生长因子-β（transforming growth factor-β,TGF-β）超家族的新成员。为了研究鲁西黄牛MSTN基因上游序列多态性与转录表达的关系,本试验提取鲁西黄牛腿肌组织细胞的基因组,扩增出MSTN基因上游序列,构建进化树并通过基因测序确定其上游序列中存在单核苷酸多态位点,多态位点位于起始密码子上游805 bp处。构建表达载体,在体外对C2C12细胞进行转染,从而验证MSTN基因上游序列多态位点对转录的影响。结果显示,MSTN基因上游序列中单个核苷酸的改变会影响其下游基因的表达水平。推测在体内MSTN基因上游序列中单核苷酸多态性能够影响基因的转录活性,在调节基因转录的过程中起着重要作用。     

微粒体甘油三酯转运蛋白研究进展

从微粒体甘油三酯转运蛋白(MTP)结构、功能、活性与多态性、脂代谢中的作用、表达与调节等方面综述了微粒体甘油三酯转运蛋白是一种重要的脂质转运蛋白,着重论述了MTP与脂代谢关系、MTP表达与调节.MTP的活性、基因表达状态是控制极低密度脂蛋白合成、装配和分泌速率的重要因素,研究MTP基因表达与调节对预防动物脂肪肝、提高畜禽生产品质,探讨人类脂类代谢性疾病和心血管疾病等重要疾病形成机制,对防治这些疾病具有重要的临床意义.     

四个绵羊品种MHC-DQA1基因exonⅡ多态性分析

为了比较和揭示洼地绵羊、杜泊羊、小尾寒羊及特克赛尔绵羊4个绵羊品种MHC-DQA1基因的遗传多态性,采用PCR-RFLP技术对4个绵羊品种224个样本的MHC-DQA1基因exonⅡ的315 bp片段进行多态性分析;并对基因型频率和等位基因频率进行统计,运用Popgen32软件计算相应的遗传参数.结果表明,AluI-R...     

Identification and quantification of benzimidazole resistance polymorphisms in Haemonchus contortus isolated in Northeastern Brazil

Haemonchus contortus is the most prevalent nematode in Brazil. The objective of this study was to select 6 populations of H. contortus of known or suspected benzimidazole resistance status and characterize these using quantitative real-time polymerase chain reaction (qPCR) for single nucleotide polymorphisms (SNPs) F200Y, F167Y and E198A in the β-tubulin isotype 1 gene. qPCR was performed using DNA from a pool of 10 adult male H. contortus from a single animal per farm. Faecal egg count reduction test (FECRT) and egg hatch test (EHT) were used to determine the resistance status. Samples were obtained from 6 farms located in 5 counties in the Ceará State: Tauá, Boa Viagem, Quixadá, Santa Quitéria and Solonópole. The inbred-susceptible-Edinburgh (ISE) isolate was used as reference for comparative purposes in the qPCR. Benzimidazole resistance was detected by FECRT on all farms with efficacy values ranging from 0 to 51%. EC50 values as determined by EHT were all above 1.49 μg/ml. High frequencies of the resistant SNPs F200Y and F167Y alleles were detected but no resistance was detected at SNP E198A. Our results suggest that the SNPs F167Y and F200Y are both important for benzimidazole resistance in the studied populations.     

中国荷斯坦奶牛EEF1D基因的SNPs检测及其与产奶性状的关联分析

试验旨在研究中国荷斯坦奶牛真核生物翻译延伸因子1D（eukaryotic translation elongation factor 1 delta,EEF1D）基因的多态性及其与产奶性状的相关性。利用Sequenom MassARRAY SNP分型技术对宁夏地区1 252头中国荷斯坦奶牛EEF1D基因的多态性进行了检测,并对其多态位点不同基因型和组合基因型与产奶性状进行了关联分析。结果显示,EEF1D基因的5'侧翼区存在2个SNPs位点,即EEF1D-1和EEF1D-3;经检测发现,EEF1D-1存在2种基因型,EEF1D-3存在3种基因型。χ²检验表明,中国荷斯坦奶牛在EEF1D-1位点偏离Hardy-Weinberg平衡状态（P < 0.05）,在EEF1D-3位点未偏离Hardy-Weinberg平衡状态（P > 0.05）;EEF1D-1和EEF1D-3位点多态信息含量（PIC）分别为0.10和0.28,分别呈现低度多态和中度多态。在试验群体中,EEF1D-1位点对乳脂率和乳蛋白率性状的效应均达到极显著水平（P<0.01）,对305 d产奶量性状的效应达到显著水平（P<0.05）;EEF1D-3位点对305 d产奶量、乳脂率和乳蛋白率性状的效应均达到极显著水平（P<0.01）;EEF1D基因的优势基因型组合GG-AG和GG-GG个体乳脂率均显著高于GG-AA组合个体（P<0.05）。说明EEF1D基因可以作为影响中国荷斯坦奶牛产奶性状的候选基因用于标记辅助选择。     

Genomewide association for a dominant pigmentation gene in sheep

Most published genomewide association studies (GWAS) in sheep have investigated recessively inherited monogenic traits. The objective here was to assess the feasibility of performing GWAS for a dominant trait for which the genetic basis was already known. A total of 42 Manchega and Rasa Aragonesa sheep that segregate solid black or white coat pigmentation were genotyped using the SNP50 BeadChip. Previous analysis in Manchegas demonstrated a complete association between the pigmentation trait and alleles of the MC1R gene, setting an a priori expectation for GWAS. Multiple methods were used to identify and quantify the strength of population substructure between black and white animals, before allelic association testing was performed for 49 034 SNPs. Following correction for substructure, GWAS identified the most strongly associated SNP (s26449) was also the closest to the MC1R gene. The finding was strongly supported by the permutation tree‐based random forest (RF) analysis. Importantly, GWAS identified unlinked SNP with only slightly lower p‐values than for s26449. Random forest analysis indicated these were false positives, suggesting interpretation based on both approaches was beneficial. The results indicate that a combined analytical approach can be successful in studies where a modest number of animals are available and substantial population stratification exists.     

Myophosphorylase deficiency (glycogen storage disease Type V) in a herd of Charolais cattle in New Zealand: Confirmation by PCR-RFLP testing

AIM: To describe a disease of muscle in Charolais calves and confirm the putative diagnosis of inherited myophosphorylase deficiency.

METHODS: Variously stained paraffin sections of muscle prepared from affected calves were used to describe the lesions. A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test was developed and applied to affected calves, their sires, dams and other individuals.

RESULTS: The lesions were those of rhabdomyolysis of skeletal muscles and sub-sarcolemmal spaces in normal fibres. The PCR-RFLP test confirmed the expected mutation for phosphorylase deficiency of Charolais cattle in two affected calves. In addition, sires, dams and other closely-related individuals of four affected calves tested as heterozygous for the mutation. Other apparently unrelated animals also tested as heterozygous.

CONCLUSIONS: The diagnosis of myophosphorylase deficiency was confirmed. The PCR-RFLP test is suitable for use in controlling this recessively-inherited disorder as it can diagnose heterozygous individuals that are otherwise clinically normal.     

哺乳动物繁殖季节性相关基因的研究进展

光照周期或季节更替调控松果体褪黑激素的分泌,下丘脑-垂体-性腺轴接收来自褪黑激素的信息并整合机体内部生理状态后调控下丘脑GnRH的脉冲释放,确保动物在一年中最适宜的时间进行繁殖。哺乳动物在长期进化过程中形成了一定的繁殖节律,已确定一些基因与繁殖的季节性有关。笔者简要介绍了褪黑激素受体1A基因、褪黑激素受体1B基因、KiSS-1/GPR54基因等与哺乳动物繁殖季节性的关系。